In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published updated standards and guidelines for the clinical interpretation of ...sequence variants with respect to human diseases on the basis of 28 criteria. However, variability between individual interpreters can be extensive because of reasons such as the different understandings of these guidelines and the lack of standard algorithms for implementing them, yet computational tools for semi-automated variant interpretation are not available. To address these problems, we propose a suite of methods for implementing these criteria and have developed a tool called InterVar to help human reviewers interpret the clinical significance of variants. InterVar can take a pre-annotated or VCF file as input and generate automated interpretation on 18 criteria. Furthermore, we have developed a companion web server, wInterVar, to enable user-friendly variant interpretation with an automated interpretation step and a manual adjustment step. These tools are especially useful for addressing severe congenital or very early-onset developmental disorders with high penetrance. Using results from a few published sequencing studies, we demonstrate the utility of InterVar in significantly reducing the time to interpret the clinical significance of sequence variants.
Since the emergence of inorganic–organic hybrid perovskites a few years ago, there have been many promising achievements in the field of green and red perovskite light‐emitting diodes (PeLEDs). ...Nevertheless, the performance of blue‐light PeLEDs faces challenges. In this work, the unique synergy obtained by introducing two different ligands to successfully form quasi‐2D perovskite films, which can exhibit stable blue‐light emission, is utilized. The fabricated PeLEDs have a maximum external quantum efficiency of 2.62% and a half lifetime (T50) of 8.8 min. Meanwhile, the electroluminescence spectrum with its peak located at 485 nm, demonstrates improved stability by applying different voltage bias. The finding in this work offers a new way to achieve steady blue PeLEDs with high performance.
Utilizing synergistic effects with two different ligands, a stable blue perovskite emitter is successfully fabricated. The corresponding blue perovskite light‐emitting diode shows excellent device performance with a peak external quantum efficiency of 2.62% and a T50 lifetime of 8.8 min, demonstrating remarkable color stability under operation.
Liquid-liquid extraction plays an important role in separation and purification of substance. Miniaturized extraction processes based on microflow have received increasing attention for application ...in fields such as small-scale purification, fine chemical synthesis, and the rapid analysis of chemical and biological samples. To outline the microflow extraction from its more basic form to its utilizations, this review begins by introducing the progress of research into fluidic dynamics and mass transfer on the microscale. Typical miniaturized extractors and phase separators are then presented with analysis of their advantages. Finally, typical application of microflow extraction are demonstrated, which show great potential for the miniaturization of separation processes.
•The recent development of microflow extraction is introduced.•Fluid dynamics and mass transfer in different flow patterns are demonstrated.•Formulas for droplet size and mass transfer coefficient are collected.•Characters of microflow extractors and phase separators are introduced.•The applications of microflow extraction are summarized.
The great success of ynones in synthesis is rooted in their multiple functional groups. Herein, reactions triggered by the reflex‐Michael addition, ynones in copper(I)‐catalyzed alkyne–azide ...cycloaddition (CuAAC), and formal cycloaddition as well as the use of ynones as nucleophilic enols, electrophilic ketones, and allenic precursors were thoroughly discussed and summarized. Multi‐component reactions, rearrangements, cycloadditions, regio‐ and stereoselective synthesis, coupling, and cycloaddition are depicted in detail. This review focused on advances of ynones chemistry in the last decade (2009–2019). We hope it will promote future research in this area.
This review focused on advances of ynones chemistry in the last decade (2009‐2019). Multi‐component reactions, rearrangements, cycloadditions, regio‐ and stereoselective synthesis, coupling, and cycloaddition are depicted in detail.
A novel coronavirus-severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-emerged in humans in Wuhan, China, in December 2019 and has since disseminated globally
. As of April 16, 2020, the ...confirmed case count of coronavirus disease 2019 (COVID-19) had surpassed 2 million. Based on full-genome sequence analysis, SARS-CoV-2 shows high homology to SARS-related coronaviruses identified in horseshoe bats
. Here we show the establishment and characterization of expandable intestinal organoids derived from horseshoe bats of the Rhinolophus sinicus species that can recapitulate bat intestinal epithelium. These bat enteroids are fully susceptible to SARS-CoV-2 infection and sustain robust viral replication. Development of gastrointestinal symptoms in some patients with COVID-19 and detection of viral RNA in fecal specimens suggest that SARS-CoV-2 might cause enteric, in addition to respiratory, infection
. Here we demonstrate active replication of SARS-CoV-2 in human intestinal organoids and isolation of infectious virus from the stool specimen of a patient with diarrheal COVID-19. Collectively, we established the first expandable organoid culture system of bat intestinal epithelium and present evidence that SARS-CoV-2 can infect bat intestinal cells. The robust SARS-CoV-2 replication in human intestinal organoids suggests that the human intestinal tract might be a transmission route of SARS-CoV-2.
High-throughput DNA sequencing platforms have become widely available. As a result, personal genomes are increasingly being sequenced in research and clinical settings. However, the resulting massive ...amounts of variants data pose significant challenges to the average biologists and clinicians without bioinformatics skills.
We developed a web server called wANNOVAR to address the critical needs for functional annotation of genetic variants from personal genomes. The server provides simple and intuitive interface to help users determine the functional significance of variants. These include annotating single nucleotide variants and insertions/deletions for their effects on genes, reporting their conservation levels (such as PhyloP and GERP++ scores), calculating their predicted functional importance scores (such as SIFT and PolyPhen scores), retrieving allele frequencies in public databases (such as the 1000 Genomes Project and NHLBI-ESP 5400 exomes), and implementing a 'variants reduction' protocol to identify a subset of potentially deleterious variants/genes. We illustrated how wANNOVAR can help draw biological insights from sequencing data, by analysing genetic variants generated on two Mendelian diseases.
We conclude that wANNOVAR will help biologists and clinicians take advantage of the personal genome information to expedite scientific discoveries. The wANNOVAR server is available at http://wannovar.usc.edu, and will be continuously updated to reflect the latest annotation information.
A procedure for the transition‐metal‐free three‐component reaction of 1,3,5‐triazines, diazo compounds and tert‐butyl nitrite has been described. This reaction goes through tandem nucleophilic attack ...to generate synthetically important β‐aminonitroso‐α‐diazocarbonyl compounds in moderate to good yields. This protocol is distinguished by the use of readily available starting materials, wide substrate scope and operational simplicity. Notably, a N−N bond and a C−C bond were formed simultaneously.
It is a common aim of psychologists to construct a definition model with universal cultural applicability for mental health. These models can be divided into two types in terms of definition: One is ...the negative mental health definition model based on the absence of mental illness symptoms; the other is the definition model of positive mental health based on subjective feelings, such as happiness and social identity. However, neither of these definitions can properly explain Chinese people's understanding of mental health or how mental health is dealt with in Chinese culture. This paper proposes a Yin-Yang definition model of mental health based on the theory of personality of Confucianism and Taoism. This model not only properly describes the understanding of mental health in traditional Chinese culture, but also explains East Asian psychotherapy and mental health practices in the context of Chinese culture.
Rechargeable aqueous Zn‐ion batteries (ZIBs) are regarded as one of the most promising devices for the next‐generation energy storage system. However, the uncontrolled dendrite growth on Zn metal ...anodes and the side hydrogen evolution reaction, which has not yet been well considered, hinder the practical application of these batteries. Herein, a uniform and robust metallic Sb protective layer is designed based on the theoretic calculation and decorated on Zn plate via in situ replacement reaction. Compared with the bare Zn plate, the as‐prepared Zn@Sb electrode provides abundant zincophilic sites for Zn nucleation, and homogenizes the electric field around the Zn anode surface, both of which promote the uniform Zn deposition to achieve a dendrite‐free morphology. Moreover, the Gibbs free energy (∆GH) calculation and in situ characterization demonstrate that hydrogen evolution reaction can be effectively suppressed by the Sb layer. Consequently, Sb‐modified Zn anodes exhibit an ultralow voltage hysteresis of 34 mV and achieve excellent cycling stability over 1000 h with hydrogen‐ and dendrite‐free behaviors. This work provides a facile and effective strategy to suppress both hydrogen evolution reaction and dendrite growth.
A uniform and robust metallic Sb protective layer is decorated on Zn plate via in situ replacement reaction. With rich zincophilic sites for Zn nucleation, improved electrolyte wettability and homogenized electric field, the Sb layer promotes the uniform Zn deposition with a dendrite‐free morphology. Moreover, the Gibbs free energy calculation and in situ characterization demonstrate that hydrogen evolution reaction can be effectively suppressed by the Sb layer.
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